Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal middle ear reflexes (HP:0004454)

Parent Node:
Abnormality of the acoustic reflex (HP:0040121)

..Starting node
..Absence of acoustic reflex (HP:0008529)

Term ID:

8529

Name:

Absence of acoustic reflex

Synonym:

Absence of acoustic middle ear muscle reflexes; Absent middle ear reflexes

Definition:

Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.

Comments:

Reference:

HP:0008529

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impairment of the the acoustic reflex (HP:0040122)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008529	HP:0008529	Absence of acoustic reflex	0	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1	.	8
HP:0008529	HP:0008529	Absence of acoustic reflex	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0008529	HP:0008529	Absence of acoustic reflex	0	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9	.	383
HP:0008529	HP:0008529	Absence of acoustic reflex	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54

Genes (4) :DIAPH3 MPDU1 OTOF PRORP

Diseases (4) :OMIM:609129 ORPHA:79323 OMIM:601071 OMIM:619737

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.